题名 | Statistical analysis of mutant allele frequency level of circulating cell-free DNA and blood cells in healthy individuals |
作者 | Xia, Ligang1; Li, Zhoufang2 ![]() ![]() ![]() ![]() ![]() ![]() ![]() ![]() |
通讯作者 | He, Jiankui; He, Jiankui |
发表日期 | 2017-08-08
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DOI | |
发表期刊 | |
ISSN | 2045-2322
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卷号 | 7 |
摘要 | Cell-free DNA (cfDNA) in plasma has emerged as a potential important biomarker in clinical diagnostics, particularly in cancer. However, somatic mutations are also commonly found in healthy individuals, which interfere with the effectiveness for cancer diagnostics. This study examined the background somatic mutations in white blood cells (WBC) and cfDNA in healthy controls based on sequencing data from 821 non-cancer individuals and several cancer samples with the aim of understanding the patterns of mutations detected in cfDNA. We determined the mutation allele frequencies in both WBC and cfDNA using a panel of 50 cancer-associated genes that covers 20 K-nucleotide region and ultra-deep sequencing with average depth > 40000-fold. Our results showed that most of the mutations in cfDNA were highly correlated to WBC. We also observed that the NPM1 gene was the most frequently mutated gene in both WBC and cfDNA. Our study highlighted the importance of sequencing both cfDNA and WBC to improve the sensitivity and accuracy for calling cancer-related mutations from circulating tumour DNA, and shedded light on developing a strategy for early cancer diagnosis by cfDNA sequencing. |
相关链接 | [来源记录] |
收录类别 | |
语种 | 英语
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学校署名 | 通讯
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资助项目 | National Natural Science Foundation of China[31401145]
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WOS研究方向 | Science & Technology - Other Topics
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WOS类目 | Multidisciplinary Sciences
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WOS记录号 | WOS:000407180200027
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出版者 | |
来源库 | Web of Science
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引用统计 |
被引频次[WOS]:29
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成果类型 | 期刊论文 |
条目标识符 | http://sustech.caswiz.com/handle/2SGJ60CL/28723 |
专题 | 生命科学学院_生物系 |
作者单位 | 1.Jinan Univ, Clin Med Coll 2, Shenzhen Peoples Hosp, Dept Gastrointestinal Surg, Shenzhen 518020, Peoples R China 2.South Univ Sci & Technol China, Dept Biol, Shenzhen 518055, Peoples R China 3.Shenzhen Second Peoples Hosp, Dept Oncol, Shenzhen, Peoples R China 4.Direct Genom Co Ltd, Shenzhen 518055, Guangdong, Peoples R China 5.Shenzhen GeneHlth Bio Tech Co Ltd, Shenzhen 518053, Guangdong, Peoples R China 6.Anhui Med Univ, Anhui Prov Canc Hosp, West Branch Anhui Prov Hosp, Dept Clin Lab, Hefei, Anhui, Peoples R China 7.Peking Univ, Shenzhen Hosp, Thorac Dept, Shenzhen, Peoples R China 8.Shenzhen Second Peoples Hosp, Surg Dept Urol, Shenzhen, Peoples R China 9.Jinan Univ, Clin Med Coll 2, Shenzhen Peoples Hosp, Dept Gastrointestinal Surg, Shenzhen 518020, Peoples R China 10.South Univ Sci & Technol China, Dept Biol, Shenzhen 518055, Peoples R China 11.Shenzhen Second Peoples Hosp, Dept Oncol, Shenzhen, Peoples R China 12.Direct Genom Co Ltd, Shenzhen 518055, Guangdong, Peoples R China 13.Shenzhen GeneHlth Bio Tech Co Ltd, Shenzhen 518053, Guangdong, Peoples R China 14.Anhui Med Univ, Anhui Prov Canc Hosp, West Branch Anhui Prov Hosp, Dept Clin Lab, Hefei, Anhui, Peoples R China 15.Peking Univ, Shenzhen Hosp, Thorac Dept, Shenzhen, Peoples R China 16.Shenzhen Second Peoples Hosp, Surg Dept Urol, Shenzhen, Peoples R China |
通讯作者单位 | 生物系 |
推荐引用方式 GB/T 7714 |
Xia, Ligang,Li, Zhoufang,Zhou, Bo,et al. Statistical analysis of mutant allele frequency level of circulating cell-free DNA and blood cells in healthy individuals[J]. Scientific Reports,2017,7.
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APA |
Xia, Ligang.,Li, Zhoufang.,Zhou, Bo.,Tian, Geng.,Zeng, Lidong.,...&He, Jiankui.(2017).Statistical analysis of mutant allele frequency level of circulating cell-free DNA and blood cells in healthy individuals.Scientific Reports,7.
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MLA |
Xia, Ligang,et al."Statistical analysis of mutant allele frequency level of circulating cell-free DNA and blood cells in healthy individuals".Scientific Reports 7(2017).
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